A rare case of paediatric astroblastoma with concomitant MN1-GTSE1 and EWSR1-PATZ1 gene fusions altering management.

Karan R ChaddaKatherine HollandDaniel ScoffingsAndrew DeanJessica C PicklesSam BehjatiThomas S JacquesJamie TrotmanPatrick TarpeyKieren AllinsonMatthew Jonathan Murraynull null

Published in: Neuropathology and applied neurobiology (2021)

In a case of astroblastoma, methylation analysis was uninformative, with no clustering with known CNS-HGNET-MN1 cases. Whole genome sequencing however identified a novel MN1-GTSE1 gene fusion (image), confirming the diagnosis of astroblastoma, as well as an EWSR1-PATZ1 gene fusion. Whole genome sequencing, alongside methylation profiling and conventional neuropathology, will continue to lead to improved diagnostics and prognostication for children with brain tumours.

Keyphrases

genome wide
rare case
copy number
dna methylation
genome wide identification
room temperature
intensive care unit
transition metal
gene expression